CA2715407C - Method to predict response to pharmacological chaperone treatment of diseases - Google Patents

Method to predict response to pharmacological chaperone treatment of diseases Download PDF

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Publication number
CA2715407C
CA2715407C CA2715407A CA2715407A CA2715407C CA 2715407 C CA2715407 C CA 2715407C CA 2715407 A CA2715407 A CA 2715407A CA 2715407 A CA2715407 A CA 2715407A CA 2715407 C CA2715407 C CA 2715407C
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Prior art keywords
mutation
galactosidase
gal
protein
gaa
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CA2715407A
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English (en)
French (fr)
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CA2715407A1 (en
Inventor
Elfrida Benjamin
Hung V. Do
Xiaoyang Wu
John Flanagan
Brandon Wustman
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Amicus Therapeutics Inc
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Amicus Therapeutics Inc
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Application filed by Amicus Therapeutics Inc filed Critical Amicus Therapeutics Inc
Publication of CA2715407A1 publication Critical patent/CA2715407A1/en
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    • AHUMAN NECESSITIES
    • A61MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61KPREPARATIONS FOR MEDICAL, DENTAL OR TOILETRY PURPOSES
    • A61K31/00Medicinal preparations containing organic active ingredients
    • A61K31/33Heterocyclic compounds
    • A61K31/395Heterocyclic compounds having nitrogen as a ring hetero atom, e.g. guanethidine or rifamycins
    • A61K31/435Heterocyclic compounds having nitrogen as a ring hetero atom, e.g. guanethidine or rifamycins having six-membered rings with one nitrogen as the only ring hetero atom
    • A61K31/44Non condensed pyridines; Hydrogenated derivatives thereof
    • A61K31/445Non condensed piperidines, e.g. piperocaine
    • AHUMAN NECESSITIES
    • A61MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61PSPECIFIC THERAPEUTIC ACTIVITY OF CHEMICAL COMPOUNDS OR MEDICINAL PREPARATIONS
    • A61P3/00Drugs for disorders of the metabolism
    • AHUMAN NECESSITIES
    • A61MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61PSPECIFIC THERAPEUTIC ACTIVITY OF CHEMICAL COMPOUNDS OR MEDICINAL PREPARATIONS
    • A61P3/00Drugs for disorders of the metabolism
    • A61P3/06Antihyperlipidemics
    • AHUMAN NECESSITIES
    • A61MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61PSPECIFIC THERAPEUTIC ACTIVITY OF CHEMICAL COMPOUNDS OR MEDICINAL PREPARATIONS
    • A61P3/00Drugs for disorders of the metabolism
    • A61P3/08Drugs for disorders of the metabolism for glucose homeostasis
    • A61P3/10Drugs for disorders of the metabolism for glucose homeostasis for hyperglycaemia, e.g. antidiabetics
    • AHUMAN NECESSITIES
    • A61MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61PSPECIFIC THERAPEUTIC ACTIVITY OF CHEMICAL COMPOUNDS OR MEDICINAL PREPARATIONS
    • A61P43/00Drugs for specific purposes, not provided for in groups A61P1/00-A61P41/00
    • CCHEMISTRY; METALLURGY
    • C07ORGANIC CHEMISTRY
    • C07KPEPTIDES
    • C07K14/00Peptides having more than 20 amino acids; Gastrins; Somatostatins; Melanotropins; Derivatives thereof
    • CCHEMISTRY; METALLURGY
    • C12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12QMEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q1/00Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
    • C12Q1/34Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving hydrolase
    • GPHYSICS
    • G01MEASURING; TESTING
    • G01NINVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIR CHEMICAL OR PHYSICAL PROPERTIES
    • G01N33/00Investigating or analysing materials by specific methods not covered by groups G01N1/00 - G01N31/00
    • G01N33/48Biological material, e.g. blood, urine; Haemocytometers
    • G01N33/50Chemical analysis of biological material, e.g. blood, urine; Testing involving biospecific ligand binding methods; Immunological testing
    • G01N33/68Chemical analysis of biological material, e.g. blood, urine; Testing involving biospecific ligand binding methods; Immunological testing involving proteins, peptides or amino acids
    • G01N33/6893Chemical analysis of biological material, e.g. blood, urine; Testing involving biospecific ligand binding methods; Immunological testing involving proteins, peptides or amino acids related to diseases not provided for elsewhere
    • GPHYSICS
    • G01MEASURING; TESTING
    • G01NINVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIR CHEMICAL OR PHYSICAL PROPERTIES
    • G01N2333/00Assays involving biological materials from specific organisms or of a specific nature
    • G01N2333/435Assays involving biological materials from specific organisms or of a specific nature from animals; from humans
    • G01N2333/46Assays involving biological materials from specific organisms or of a specific nature from animals; from humans from vertebrates
    • G01N2333/47Assays involving proteins of known structure or function as defined in the subgroups
    • GPHYSICS
    • G01MEASURING; TESTING
    • G01NINVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIR CHEMICAL OR PHYSICAL PROPERTIES
    • G01N2333/00Assays involving biological materials from specific organisms or of a specific nature
    • G01N2333/90Enzymes; Proenzymes
    • G01N2333/914Hydrolases (3)
    • G01N2333/924Hydrolases (3) acting on glycosyl compounds (3.2)
    • G01N2333/94Hydrolases (3) acting on glycosyl compounds (3.2) acting on alpha-galactose-glycoside bonds, e.g. alpha-galactosidase
    • GPHYSICS
    • G01MEASURING; TESTING
    • G01NINVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIR CHEMICAL OR PHYSICAL PROPERTIES
    • G01N2800/00Detection or diagnosis of diseases
    • G01N2800/04Endocrine or metabolic disorders
    • GPHYSICS
    • G01MEASURING; TESTING
    • G01NINVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIR CHEMICAL OR PHYSICAL PROPERTIES
    • G01N2800/00Detection or diagnosis of diseases
    • G01N2800/38Pediatrics
    • GPHYSICS
    • G01MEASURING; TESTING
    • G01NINVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIR CHEMICAL OR PHYSICAL PROPERTIES
    • G01N2800/00Detection or diagnosis of diseases
    • G01N2800/52Predicting or monitoring the response to treatment, e.g. for selection of therapy based on assay results in personalised medicine; Prognosis

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  • Health & Medical Sciences (AREA)
  • Life Sciences & Earth Sciences (AREA)
  • Chemical & Material Sciences (AREA)
  • Engineering & Computer Science (AREA)
  • Organic Chemistry (AREA)
  • General Health & Medical Sciences (AREA)
  • Medicinal Chemistry (AREA)
  • Molecular Biology (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Hematology (AREA)
  • Immunology (AREA)
  • Pharmacology & Pharmacy (AREA)
  • Public Health (AREA)
  • Veterinary Medicine (AREA)
  • Animal Behavior & Ethology (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • Biochemistry (AREA)
  • Diabetes (AREA)
  • Zoology (AREA)
  • Microbiology (AREA)
  • Analytical Chemistry (AREA)
  • Biomedical Technology (AREA)
  • Biotechnology (AREA)
  • Physics & Mathematics (AREA)
  • Wood Science & Technology (AREA)
  • Urology & Nephrology (AREA)
  • Nuclear Medicine, Radiotherapy & Molecular Imaging (AREA)
  • Chemical Kinetics & Catalysis (AREA)
  • General Chemical & Material Sciences (AREA)
  • Biophysics (AREA)
  • Genetics & Genomics (AREA)
  • Obesity (AREA)
  • Epidemiology (AREA)
  • General Engineering & Computer Science (AREA)
  • General Physics & Mathematics (AREA)
  • Pathology (AREA)
  • Food Science & Technology (AREA)
  • Cell Biology (AREA)
  • Gastroenterology & Hepatology (AREA)
  • Endocrinology (AREA)
CA2715407A 2008-02-12 2009-02-12 Method to predict response to pharmacological chaperone treatment of diseases Active CA2715407C (en)

Applications Claiming Priority (9)

Application Number Priority Date Filing Date Title
US2814108P 2008-02-12 2008-02-12
US61/028,141 2008-02-12
US3568408P 2008-03-11 2008-03-11
US61/035,684 2008-03-11
US9363108P 2008-09-02 2008-09-02
US61/093,631 2008-09-02
US11349608P 2008-11-11 2008-11-11
US61/113,496 2008-11-11
PCT/US2009/033963 WO2009102895A2 (en) 2008-02-12 2009-02-12 Method to predict response to pharmacological chaperone treatment of diseases

Publications (2)

Publication Number Publication Date
CA2715407A1 CA2715407A1 (en) 2009-08-20
CA2715407C true CA2715407C (en) 2022-07-26

Family

ID=40957500

Family Applications (1)

Application Number Title Priority Date Filing Date
CA2715407A Active CA2715407C (en) 2008-02-12 2009-02-12 Method to predict response to pharmacological chaperone treatment of diseases

Country Status (16)

Country Link
US (8) US8592362B2 (cg-RX-API-DMAC7.html)
EP (4) EP3470077B1 (cg-RX-API-DMAC7.html)
JP (7) JP5844045B2 (cg-RX-API-DMAC7.html)
AU (7) AU2009214648B2 (cg-RX-API-DMAC7.html)
CA (1) CA2715407C (cg-RX-API-DMAC7.html)
CY (3) CY1116466T1 (cg-RX-API-DMAC7.html)
DK (3) DK3470077T3 (cg-RX-API-DMAC7.html)
ES (3) ES2836121T3 (cg-RX-API-DMAC7.html)
HR (3) HRP20150728T1 (cg-RX-API-DMAC7.html)
HU (3) HUE042882T2 (cg-RX-API-DMAC7.html)
LT (2) LT3470077T (cg-RX-API-DMAC7.html)
MX (1) MX2010008835A (cg-RX-API-DMAC7.html)
PL (3) PL2252313T3 (cg-RX-API-DMAC7.html)
PT (3) PT2946785T (cg-RX-API-DMAC7.html)
SI (3) SI2252313T1 (cg-RX-API-DMAC7.html)
WO (1) WO2009102895A2 (cg-RX-API-DMAC7.html)

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IL310648A (en) 2017-08-28 2024-04-01 Amicus Therapeutics Inc Methods for increasing and/or stabilizing cardiac functions in patients with Fabry disease
EP3749307B1 (en) 2018-02-06 2025-12-10 Amicus Therapeutics, Inc. Use of migalastat for treating fabry disease in pregnant patients
KR20200128675A (ko) 2018-02-06 2020-11-16 아미쿠스 세라퓨틱스, 인코포레이티드 전형적 파브리병 환자의 치료
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CA3147055A1 (en) 2019-08-07 2021-02-11 Elfrida Benjamin Methods of treating fabry disease in patients having a mutation in the gla gene

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Publication number Publication date
USRE48608E1 (en) 2021-06-29
CY1121386T1 (el) 2020-05-29
SI2946785T1 (sl) 2019-02-28
EP2946785A1 (en) 2015-11-25
PT2946785T (pt) 2019-02-01
EP2252313B1 (en) 2015-04-08
HRP20190143T1 (hr) 2019-03-22
PL3470077T3 (pl) 2021-04-06
DK2946785T3 (en) 2019-02-18
AU2009214648B2 (en) 2014-11-13
US8592362B2 (en) 2013-11-26
CA2715407A1 (en) 2009-08-20
JP2021097673A (ja) 2021-07-01
US10813921B2 (en) 2020-10-27
HRP20201827T1 (hr) 2021-01-08
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